The Experts below are selected from a list of 360 Experts worldwide ranked by ideXlab platform
Kenneth S Kendler - One of the best experts on this subject based on the ideXlab platform.
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philippe pinel and the foundations of modern psychiatric Nosology
Psychological Medicine, 2020Co-Authors: Kenneth S KendlerAbstract:Philippe Pinel (1745-1826) played a major role in the foundation of modern psychiatric Nosology. Much of his contribution, historically contextualized within the enlightenment generally and post-Revolutionary France more specifically, can be summarized through five themes in his background, education and writings. First, he applied an inductive, enlightenment-informed natural science approach to classification adapted from the biological sciences, which he had studied, and applied this to large samples of mentally ill individuals in Parisian asylums, frequently referring to 'varieties' and 'species' of insanity. Second, Pinel's classificatory approach rejected metaphysical and highly speculative etiologic theories in favor of a Baconian inductive approach utilizing observational data. Third, Pinel advocated repeated assessments of patients over time, feasible given long in-patient stays. Fourth, trained in philosophy, Pinel relied on philosophically informed models of the mind and of insanity. Fifth, Pinel extensively utilized faculty psychology to understand and classify mental illness. He anticipated further developments of nineteenth-century psychiatric Nosology by challenging the then-dominant intellectualist models of insanity, adopting a humanistic-informed emphasis on the importance of symptoms alongside signs, arguing that passions could be the primary cause of mental illness, and trying to infer causal inter-relationships in psychiatric patients between disturbances in affect and understanding.
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psychiatric genetics and the structure of psychopathology
Molecular Psychiatry, 2019Co-Authors: Jordan W Smoller, Ole A Andreassen, Howard J Edenberg, Stephen V Faraone, Stephen J Glatt, Kenneth S KendlerAbstract:For over a century, psychiatric disorders have been defined by expert opinion and clinical observation. The modern DSM has relied on a consensus of experts to define categorical syndromes based on clusters of symptoms and signs, and, to some extent, external validators, such as longitudinal course and response to treatment. In the absence of an established etiology, psychiatry has struggled to validate these descriptive syndromes, and to define the boundaries between disorders and between normal and pathologic variation. Recent advances in genomic research, coupled with large-scale collaborative efforts like the Psychiatric Genomics Consortium, have identified hundreds of common and rare genetic variations that contribute to a range of neuropsychiatric disorders. At the same time, they have begun to address deeper questions about the structure and classification of mental disorders: To what extent do genetic findings support or challenge our clinical Nosology? Are there genetic boundaries between psychiatric and neurologic illness? Do the data support a boundary between disorder and normal variation? Is it possible to envision a Nosology based on genetically informed disease mechanisms? This review provides an overview of conceptual issues and genetic findings that bear on the relationships among and boundaries between psychiatric disorders and other conditions. We highlight implications for the evolving classification of psychopathology and the challenges for clinical translation.
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criticisms of kraepelin s psychiatric Nosology 1896 1927
American Journal of Psychiatry, 2017Co-Authors: Kenneth S Kendler, Eric J EngstromAbstract:Emil Kraepelin's psychiatric Nosology, proposed in the 5th and 6th editions of his textbook published in 1896 and 1899, did not quickly gain worldwide acceptance, but was instead met with substantial and sustained criticism. The authors review critiques of Kraepelin's work published in his lifetime by Adolf Meyer, Friedrich Jolly, Eugenio Tanzi, Alfred Hoche, Karl Jaspers, and Willy Hellpach. These critics made six major points. First, Kraepelin's new categories of dementia praecox and manic-depressive insanity were too broad and too heterogeneous. Second, his emphasis on course of illness was misconceived, as the same disease can result in brief episodes or a chronic course. Third, the success of his system was based on the quality of his textbooks and his academic esteem, rather than on empirical findings. Fourth, his focus on symptoms and signs led to neglect of the whole patient and his or her life story. Fifth, Kraepelin's early emphasis on experimental psychology did not bear the expected fruit. Sixth, Kraepelin was committed to the application of the medical disease model. However, because of the many-to-many relationship between brain pathology and psychiatric symptoms, true natural disease entities may not exist in psychiatry. Most of the ongoing debates about Kraepelin's Nosology have roots in these earlier discussions and would be enriched by a deeper appreciation of their historical contexts. As authoritative as Kraepelin was, and remains today, his was only one among many voices, and attention to them would be well repaid by a deeper understanding of the fundamental conceptual challenges in our field. [AJP at 175: Remembering Our Past As We Envision Our Future April 1927: In Memoriam: Emil Kraepelin, M.D. Meyer provides an admiring but not uncritical overview of Kraepelin's career and contributions to psychiatry. "It was the unflinchingly psychiatric orientation of the man," he wrote, "that impressed and attracted physicians and students." (Am J Psychiatry 1927; 83:748-755 )].
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the philosophy of Nosology
Annual Review of Clinical Psychology, 2017Co-Authors: Peter Zachar, Kenneth S KendlerAbstract:Many scholars believe that psychiatric Nosology is undergoing a crisis of confidence. Some of the issues up for debate hark back to the introduction of the natural history approach to classification in the seventeenth century. Natural histories map sameness and difference rather than speculate about causes. In contrast, the natural classification approach aspires to carve nature at the joints by demarcating classifications by causes. Natural classifications are more ideal scientifically, but speculation about causality has had a poor track record in psychiatric Nosology. A natural classification of psychiatric disorders may have the added burden of requiring normative assumptions in addition to the discovery of fact. In the natural classification tradition, the epistemic iteration perspective, the Research Domain Criteria (RDoC) initiative, and dimensional models offer different views about the criteria of naturalness (or validity). Also in this tradition, some thinkers believe that causes can be empirica...
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reflections on the relationship between psychiatric genetics and psychiatric Nosology
FOCUS, 2010Co-Authors: Kenneth S KendlerAbstract:Research advances in psychiatric genetics have raised expectations that genetic findings might lead to major breakthroughs in psychiatric Nosology. The author reviews the plausibility of these claims. Four areas are addressed. First, it is argued that familial aggregation of a single putative psychiatric syndrome provides at best limited evidence for the validity of that syndrome. Second, both traditional and molecular genetic strategies can supply important insights into major diagnostic conundrums. However, evidence that one or a few individual genes impact on risk for two disorders is not likely to resolve definitively the nosologic relationship between the two syndromes. Third, while gene-based essentialist models for psychiatric disorders are conceptually appealing, they are not well supported empirically. Gene discovery in psychiatry is, on its own, unlikely to allow us to “carve nature at its joints,” thereby validating categorical psychiatric diagnoses. Fourth, the project to ground “messy” psychi...
Ravi Savarirayan - One of the best experts on this subject based on the ideXlab platform.
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Nosology and classification of genetic skeletal disorders 2019 revision
American Journal of Medical Genetics Part A, 2019Co-Authors: Geert Mortier, Daniel H Cohn, Valerie Cormierdaire, Christine Hall, Deborah Krakow, Stefan Mundlos, Gen Nishimura, Stephen P Robertson, Luca Sangiorgi, Ravi SavarirayanAbstract:The application of massively parallel sequencing technology to the field of skeletal disorders has boosted the discovery of the underlying genetic defect for many of these diseases. It has also resulted in the delineation of new clinical entities and the identification of genes and pathways that had not previously been associated with skeletal disorders. These rapid advances have prompted the Nosology Committee of the International Skeletal Dysplasia Society to revise and update the last (2015) version of the Nosology and Classification of Genetic Skeletal Disorders. This newest and tenth version of the Nosology comprises 461 different diseases that are classified into 42 groups based on their clinical, radiographic, and/or molecular phenotypes. Remarkably, pathogenic variants affecting 437 different genes have been found in 425/461 (92%) of these disorders. By providing a reference list of recognized entities and their causal genes, the Nosology should help clinicians achieve accurate diagnoses for their patients and help scientists advance research in skeletal biology.
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Nosology and classification of genetic skeletal disorders 2015 revision
American Journal of Medical Genetics Part A, 2015Co-Authors: Luisa Bonafe, Geert Mortier, Valerie Cormierdaire, Christine Hall, Stefan Mundlos, Gen Nishimura, Luca Sangiorgi, Ralph S Lachman, Ravi SavarirayanAbstract:The purpose of the Nosology is to serve as a "master" list of the genetic disorders of the skeleton to facilitate diagnosis and to help delineate variant or newly recognized conditions. This is the 9th edition of the Nosology and in comparison with its predecessor there are fewer conditions but many new genes. In previous editions, diagnoses that were phenotypically indistinguishable but genetically heterogenous were listed separately but we felt this was an unnecessary distinction. Thus the overall number of disorders has decreased from 456 to 436 but the number of groups has increased to 42 and the number of genes to 364. The Nosology may become increasingly important today and tomorrow in the era of big data when the question for the geneticist is often whether a mutation identified by next generation sequencing technology in a particular gene can explain the clinical and radiological phenotype of their patient. This can be particularly difficult to answer conclusively in the prenatal setting. Personalized medicine emphasizes the importance of tailoring diagnosis and therapy to the individual but for our patients with rare skeletal disorders, the importance of tapping into a resource where genetic data can be centralized and made available should not be forgotten or underestimated. The Nosology can also serve as a reference for the creation of locus-specific databases that are expected to help in delineating genotype-phenotype correlations and to harbor the information that will be gained by combining clinical observations and next generation sequencing results.
Stefan Mundlos - One of the best experts on this subject based on the ideXlab platform.
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Nosology and classification of genetic skeletal disorders 2019 revision
American Journal of Medical Genetics Part A, 2019Co-Authors: Geert Mortier, Daniel H Cohn, Valerie Cormierdaire, Christine Hall, Deborah Krakow, Stefan Mundlos, Gen Nishimura, Stephen P Robertson, Luca Sangiorgi, Ravi SavarirayanAbstract:The application of massively parallel sequencing technology to the field of skeletal disorders has boosted the discovery of the underlying genetic defect for many of these diseases. It has also resulted in the delineation of new clinical entities and the identification of genes and pathways that had not previously been associated with skeletal disorders. These rapid advances have prompted the Nosology Committee of the International Skeletal Dysplasia Society to revise and update the last (2015) version of the Nosology and Classification of Genetic Skeletal Disorders. This newest and tenth version of the Nosology comprises 461 different diseases that are classified into 42 groups based on their clinical, radiographic, and/or molecular phenotypes. Remarkably, pathogenic variants affecting 437 different genes have been found in 425/461 (92%) of these disorders. By providing a reference list of recognized entities and their causal genes, the Nosology should help clinicians achieve accurate diagnoses for their patients and help scientists advance research in skeletal biology.
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Nosology and classification of genetic skeletal disorders 2015 revision
American Journal of Medical Genetics Part A, 2015Co-Authors: Luisa Bonafe, Geert Mortier, Valerie Cormierdaire, Christine Hall, Stefan Mundlos, Gen Nishimura, Luca Sangiorgi, Ralph S Lachman, Ravi SavarirayanAbstract:The purpose of the Nosology is to serve as a "master" list of the genetic disorders of the skeleton to facilitate diagnosis and to help delineate variant or newly recognized conditions. This is the 9th edition of the Nosology and in comparison with its predecessor there are fewer conditions but many new genes. In previous editions, diagnoses that were phenotypically indistinguishable but genetically heterogenous were listed separately but we felt this was an unnecessary distinction. Thus the overall number of disorders has decreased from 456 to 436 but the number of groups has increased to 42 and the number of genes to 364. The Nosology may become increasingly important today and tomorrow in the era of big data when the question for the geneticist is often whether a mutation identified by next generation sequencing technology in a particular gene can explain the clinical and radiological phenotype of their patient. This can be particularly difficult to answer conclusively in the prenatal setting. Personalized medicine emphasizes the importance of tailoring diagnosis and therapy to the individual but for our patients with rare skeletal disorders, the importance of tapping into a resource where genetic data can be centralized and made available should not be forgotten or underestimated. The Nosology can also serve as a reference for the creation of locus-specific databases that are expected to help in delineating genotype-phenotype correlations and to harbor the information that will be gained by combining clinical observations and next generation sequencing results.
Ole A Andreassen - One of the best experts on this subject based on the ideXlab platform.
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the polygenic architecture of schizophrenia rethinking pathogenesis and Nosology
Nature Reviews Neurology, 2020Co-Authors: Olav B Smeland, Oleksandr Frei, Anders M Dale, Ole A AndreassenAbstract:Schizophrenia is a severe psychiatric disorder with considerable morbidity and mortality. Although the past two decades have seen limited improvement in the treatment of schizophrenia, research into the genetic causes of this condition has made important advances that offer new insights into the aetiology of schizophrenia. This Review summarizes the evidence for a polygenic architecture of schizophrenia that involves a large number of risk alleles across the whole range of population frequencies. These genetic risk loci implicate biological processes related to neurodevelopment, neuronal excitability, synaptic function and the immune system in the pathogenesis of schizophrenia. Mathematical models also suggest a substantial overlap between schizophrenia and psychiatric, behavioural and cognitive traits, a situation that has implications for understanding its clinical epidemiology, psychiatric Nosology and pathobiology. Looking ahead, further genetic discoveries are expected to lead to clinically relevant predictive approaches for identifying high-risk individuals, improved diagnostic accuracy, increased yield from drug development programmes and improved stratification strategies to address the heterogeneous disease course and treatment responses observed among affected patients.
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psychiatric genetics and the structure of psychopathology
Molecular Psychiatry, 2019Co-Authors: Jordan W Smoller, Ole A Andreassen, Howard J Edenberg, Stephen V Faraone, Stephen J Glatt, Kenneth S KendlerAbstract:For over a century, psychiatric disorders have been defined by expert opinion and clinical observation. The modern DSM has relied on a consensus of experts to define categorical syndromes based on clusters of symptoms and signs, and, to some extent, external validators, such as longitudinal course and response to treatment. In the absence of an established etiology, psychiatry has struggled to validate these descriptive syndromes, and to define the boundaries between disorders and between normal and pathologic variation. Recent advances in genomic research, coupled with large-scale collaborative efforts like the Psychiatric Genomics Consortium, have identified hundreds of common and rare genetic variations that contribute to a range of neuropsychiatric disorders. At the same time, they have begun to address deeper questions about the structure and classification of mental disorders: To what extent do genetic findings support or challenge our clinical Nosology? Are there genetic boundaries between psychiatric and neurologic illness? Do the data support a boundary between disorder and normal variation? Is it possible to envision a Nosology based on genetically informed disease mechanisms? This review provides an overview of conceptual issues and genetic findings that bear on the relationships among and boundaries between psychiatric disorders and other conditions. We highlight implications for the evolving classification of psychopathology and the challenges for clinical translation.
Jordan W Smoller - One of the best experts on this subject based on the ideXlab platform.
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psychiatric genetics and the structure of psychopathology
Molecular Psychiatry, 2019Co-Authors: Jordan W Smoller, Ole A Andreassen, Howard J Edenberg, Stephen V Faraone, Stephen J Glatt, Kenneth S KendlerAbstract:For over a century, psychiatric disorders have been defined by expert opinion and clinical observation. The modern DSM has relied on a consensus of experts to define categorical syndromes based on clusters of symptoms and signs, and, to some extent, external validators, such as longitudinal course and response to treatment. In the absence of an established etiology, psychiatry has struggled to validate these descriptive syndromes, and to define the boundaries between disorders and between normal and pathologic variation. Recent advances in genomic research, coupled with large-scale collaborative efforts like the Psychiatric Genomics Consortium, have identified hundreds of common and rare genetic variations that contribute to a range of neuropsychiatric disorders. At the same time, they have begun to address deeper questions about the structure and classification of mental disorders: To what extent do genetic findings support or challenge our clinical Nosology? Are there genetic boundaries between psychiatric and neurologic illness? Do the data support a boundary between disorder and normal variation? Is it possible to envision a Nosology based on genetically informed disease mechanisms? This review provides an overview of conceptual issues and genetic findings that bear on the relationships among and boundaries between psychiatric disorders and other conditions. We highlight implications for the evolving classification of psychopathology and the challenges for clinical translation.
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disorders and borders psychiatric genetics and Nosology
American Journal of Medical Genetics, 2013Co-Authors: Jordan W SmollerAbstract:Over the past century, the definition and classification of psychiatric disorders has evolved through a combination of historical trends, clinical observations, and empirical research. The current Nosology, instantiated in the DSM-5 and ICD-10, rests on descriptive criteria agreed upon by a consensus of experts. While the development of explicit criteria has enhanced the reliability of diagnosis, the validity of the current diagnostic categories has been the subject of debate and controversy. Genetic studies have long been regarded as a key resource for validating the boundaries among diagnostic categories. Genetic epidemiologic studies have documented the familiality and heritability of clinically defined psychiatric disorders and molecular genetic studies have begun to identify specific susceptibility variants. At the same time, there is growing evidence from family, twin and genomic studies that genetic influences on psychiatric disorders transcend clinical boundaries. Here I review this evidence for cross-disorder genetic effects and discuss the implications of these findings for psychiatric Nosology. Psychiatric genetic research can inform a bottom-up reappraisal of psychopathology that may help the field move beyond a purely descriptive classification and toward an etiology-based Nosology.
